Introduction
Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder characterized by fragile bones that break easily. It has an incidence rate ranging from approximately 1 in 10,000 to 20,000 individuals [1]. Optimal management of OI requires a multidisciplinary approach involving pediatricians, endocrinologists specializing in bone and mineral disorders, rehabilitation specialists, orthopedic surgeons, dentists, geneticists, social workers/psychologists, physiotherapists, and occupational therapists [2]. Rational, standardized, and effective treatment can significantly enhance the quality of life for OI patients. However, patients alike encounter difficulties in managing OI, due to inadequate knowledge and misconceptions regarding care, frequently resulting in delayed treatments and suboptimal outcomes [3]. Common misconceptions in clinical practice include excessive protective measures that may weaken bones further, conservative treatment following fractures that exacerbates deformities and bone thinning, and missed opportunities for surgical intervention [4]. A 2013 report from China indicated that only a small proportion of OI patients had received standardized treatment [5].
OI poses a significant burden on patients in China, and the current medical insurance policies are insufficient to address these challenges effectively. According to the DISMOD II model, the incidence of OI has been estimated at 1.13 per 10,000 individuals across eight provinces in China, highlighting the need for improved healthcare measures. The disease burden is 1.2 Disability Adjusted Life Years (DALYs) per 1,000,000,which is higher than the burden caused by death [6]. Due to China’s large population base, there are relatively more patients with rare diseases, and the existing medical insurance policies do not cover reimbursement for all rare diseases. China’s current medical security system can be summarized as the ‘2 + 6’ system, based on two basic medical insurance systems: Urban Employee Basic Medical Insurance and Rural Resident Basic Medical Insurance. It is supplemented by six vertical extensions of medical insurance policy systems, including the large medical expense assistance fund, supplementary medical insurance, critical illness insurance, long-term care insurance, medical assistance, and medical insurance poverty alleviation. However, China’s medical policies for rare diseases are still in their infancy, lacking national-level guidance and comprehensive planning, which consequently restricts their coverage [7]. There exist gaps in China’s protection measures for rare diseases, including the absence of high-level legislation and an incomplete protection system. Basic medical insurance struggles to cover the high treatment costs, with provincial reimbursement disparities [8, 9]. While 22% of orphan drugs are insured, the expectation is for more coverage to alleviate financial burdens [10]. There’s a dearth of treatment options, with diagnosis costs predominating (49.33%) over drug and treatment expenses [11]. The economic impact of rare disease treatment is substantial, yet medical insurance provides limited relief [12]. For OI patients, Bisphosphonate is a commonly used drug in the clinical treatment. The price of bisphosphonate is approximately 300 yuan per 5 mg. It is classified as Class B in China’s National Reimbursement Drug List, with a self-payment ratio of 20%,under normal circumstances. The economic burden associated with OI patient treatment encompasses pharmaceuticals, diagnostic procedures, surgical expenses, operative supplies, rehabilitative therapy, daily care, transportation fees, and other related expenses. Within the current framework of China’s rare disease management policies, there is a pronounced focus on enhancing reimbursement rates for orphan drugs; however, this does not wholly extend to OI patients.
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Chinese medical institutions include both public and non-public medical institutions. Most people prefer public medical institutions because they are perceived as more trustworthy. Hospitals are categorized into three levels: Level I hospitals, serving as primary healthcare providers, offer direct preventive, medical, healthcare, and rehabilitation services to a defined population within a community. Level II hospitals, acting as regional medical centers, provide comprehensive medical and healthcare services, including more complex treatments and emergency care, while also undertaking specific teaching and research responsibilities. Level III hospitals, as tertiary institutions, provide advanced specialized medical and healthcare services to multiple regions, while also fulfilling higher education and research responsibilities. When facing common, non-life-threatening illnesses, people often opt for level I healthcare institutions as their first choice. If their condition does not improve, they may then opt for level II or III healthcare institutions. However, in the case of rare diseases like OI, they are frequently unable to be diagnosed or treated at level I healthcare institutions. Instead, patients are typically recommended to seek medical attention or treatment at level III healthcare institutions. The diagnostic and treatment costs in tertiary hospitals are higher than those in primary hospitals. The Peking Union Medical College Hospital initiated China’s National Registry System for Rare Diseases(NRDRS), estimating 16.8 million rare disease patients in China until 2016 [13]. OI had been included in the first batch of rare disease catalogs in China. Partnering with 108 top hospitals, NRDRS registered 208 rare diseases, creating databases and biobanks for precise management.78,498 patients were registered, until April 2024. Starting from January 2024,the platform will also record information on equipment usage and policy evaluation, and the relevant results have not yet been announced [14]. Currently, the system has documented a limited number of rare disease patients, predominantly from developed regions, with a comparatively minor fraction hailing from the southwestern areas. These did not represent the overall management situation of rare diseases in China.
Anderson’s model, established in 1968,is a leading framework for analyzing healthcare use. The 2013 revision of the Behavioral Model of Health Services Use (BMHSU) categorizes influencing factors into four dimensions: Contextual Characteristics, Individual Characteristics, Health Behaviors, and Outcomes. Its systematic and logical approach has made it a global standard for studying healthcare utilization [6].
Care-seeking behavior is a continuous process that includes recognizing symptoms, seeking medical treatment, receiving a doctor’s diagnosis, undergoing treatment, and adhering to the doctor’s advice [15]. The care-seeking behavior of children is primarily guided by caregivers and influenced by various factors. Despite standardized OI treatment protocols [16], only a few Chinese OI patients receive proper care [5]. However, the study did not analyze the reason behind this phenomenon. Chronic disease care-seeking is affected by various factors, including negative attitudes, shame, low social support, self-efficacy, coping styles, and disease knowledge gaps [17]. Rare disease patients’ behavior is linked to social support, but not social insurance; Those on minimum living support often choose primary care due to lower treatment rates [18].
This study aimed to analyze the healthcare-seeking behaviors of primary caregivers for children with OI in Southwest China, to analyze the reasons influencing their medical-seeking behaviors based on Anderson’s model, and to provide corresponding strategies.
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Methods
We employed a phenomenological method to explore the consciousness and experiences of caregivers for children with OI in Southwest China. This qualitative approach focuses on understanding their life experiences and constructing personal meaning.
The participants belong to a tertiary centre for children in Chongqing, which is the biggest hospital for children in Southwest China. Using purposive sampling, we selected caregivers of children with OI who were hospitalized or outpatient in the orthopedics and endocrine department from January 2010 to August 2021 as the study subjects. From March 2021 to August 2021,they were interviewed either by telephone or face-to-face in a confidential environment. Inclusion criteria were:①The child had a clinical diagnosis of OI;②The caregivers were able to understand our questions and communicate their thoughts and feelings clearly. Exclusion criteria were:①the child developed other diseases in the past month, except for hospitalization or fracture induced by OI;②family members have not experienced major changes recently. To obtain more extensive, richer, and diverse interview information, we tried to select people with diverse demographic background characteristics. The number of interviews was determined based on information saturation.
A semi-structured interview guide was created from literature and clinical insights. It was pre-tested with two caregivers, and revisions were made accordingly. Interview outline: ①Describe the OI diagnosis experience.②Was OI known in the family prior to the diagnosis?③What treatments were administered to the child?④Which hospital did the child receive the treatment? Why did you choose this hospital?⑤Briefly explain your knowledge of the disease, its treatment, and exercises.⑥Did the child ever discontinue treatment? Why?⑦What are the plans for future treatment and the reasons behind them?
Caregivers were interviewed in-person or via phone, with the researcher screening candidates and explaining the study to gain consent. Interviews, lasting 20–40 min, used open-ended questions to elicit personal narratives. Researchers documented both verbal responses and non-verbal cues throughout the process. When no new codes emerged, two more interviews were conducted, and the interviews were stopped when new codes no longer emerged.
Post-interview, thematic analysis [19] was applied. Researchers listened to recordings, reviewed notes and memos, and gradually formed concepts and themes based on the Anderson’s model. Firstly, we transcribe the interview recordings into text and then compare them with the original recordings to confirm their accuracy. Secondly, two researchers read the interview transcripts simultaneously and independently generating initial codes that is meaningful to medical behavior. To ensure the reliability and validity of the coding, two researchers hold a comprehensive discussion after completing the coding process. Codes that are agreed upon are included in the next stage of the research, while there is a disagreement, two researchers will discuss and then decide whether to adopt it or not. Then, based on the Andersen Model of Health Services Utilization, all codes are organized into potential themes. Finally, we review the potential themes. We listen to the interview recordings again to check for any missed codes and to confirm whether the codes can reflect the narratives of the interviewees. The data analysis has been represented in the Fig. 1.
Fig. 1
The data analysis workflow in a figure
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The study, approved by the Institutional Review Board of Children’s Hospital of Chongqing Medical University, File No.2021(59),involved participants who verbally consented, with interviews recorded for documentation.
Results
Twenty participants (eight mothers and twelve fathers, the main caregivers) from Chongqing, Sichuan, and Guizhou regions consented to this study. Demographic and OI-related data of the children were compiled, with details in Table 1.
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Table 1
Characteristics of the participants(children and their caregivers)
Age of children(years) | Caregiver Education | |||
1–3 | 2 | Primary school | 7 | |
4–6 | 3 | Junior high school | 11 | |
7–12 | 9 | High school | 2 | |
13–18 | 6 | Disease Knowledge Self-Assessment | ||
The OI type | completely understood | 5 | ||
I | 2 | inadequately understood | 13 | |
III | 12 | No understood | 2 | |
IV | 6 | Residential Address | ||
Treatment of their children | Urban | 7 | ||
Bisphosphonates | 2 | countryside | 12 | |
Orthopedic surgery | 10 | Town | 1 | |
Bisphosphonates + Orthopedic surgery | 6 | Registered residence | ||
No treatment | 2 | Chongqing | 11 | |
Gender of caregiver | Sichuan | 8 | ||
Female | 8 | Guizhou | 1 | |
Male | 12 |
Using Anderson’s model, we dissected parental care-seeking for OI children through four dimensions. We analyzed medical insurance policies, resource availability, family demographics, disease knowledge, access to care, treatment outcomes, and so on. This analysis helps healthcare professionals understand the medical challenges faced by the OI community. We identified eight themes in the interview data (Table 2).
Table 2
Main themes and codes
Dimension | Main theme | Codes |
|---|---|---|
Contextual characteristics | Regional disparities of OI management | Scarcity of hospitals offering standardized OI treatment |
Regional disparities in medical insurance reimbursement rates and complex procedures | ||
Lack of medical consortium support | ||
Big economic burden | Absence of dedicated OI funds | |
High treatment costs | ||
Treatment costs exceeding family expectations | ||
Individual characteristic | High-risk population | Issues related to the floating population |
Challenges faced by low-income families | ||
Lack of health education | Inadequate knowledge about OI | |
Limited access to OI information | ||
Inability to assess health status | ||
Health behaviors | Multiple treatments | Frequent medical consultations |
Strict treatment indications | Stringent criteria for treatment access | |
Outcomes | Disappointing therapeutic outcomes | Unmet therapeutic expectations |
Misunderstood side effects | ||
Effective or ineffective treatment results | The impact of treatment outcomes on attitudes towards subsequent treatment. |
Regional disparities of OI management
The participants reported that only a few hospitals offer standardized OI treatment, they had to seek medical treatment in multiple locations. This lead to patients having to travel long distances for medical care, which increased the cost of seeking treatment and also caused fatigue for the patients and their caregivers.
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“We found a hospital that could provide the treatment online, but we had a surgery in another hospital in 2017.”(P1).
“My child had an operation in Beijing before, then my child had another operation in Southwest Hospital, after that we went to Beijing Union Endocrine Hospital.”(P14).
Participants also discussed that the regional medical insurance settlements are low, and the complex procedures often prevent OI patients from receiving reimbursement. Due to the limited number of hospitals providing OI treatment, patients need to seek medical care across regions. The varying insurance ratios and procedures for the same disease in different areas increase the difficulty for the patient population in obtaining medical insurance coverage.
“When seeking treatment at Tianjin Hospital and applying for medical insurance reimbursement in Chongqing, we need to apply for medical insurance in advance and then apply for reimbursement upon returning. I haven’t received it twice, so I haven’t applied for medical insurance. I also purchased medical insurance. Tianjin Hospital requires a referral certificate for medical insurance applications.”(P1).
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“There was no response to the congenital defect rescue application processed at the hospital (sighs).”(P20).
The participants believed that, compared to seeking medical treatment in other places, they would prefer to receive standardized treatment locally. They suggested that this issue might be addressed by implementing telemedicine and establishing regional medical centers.
“Is it convenient for you to communicate with our doctor from the medical college? He wants to know about the bisphosphonates treatment and wants to have a meeting to learn and communicate.“(P20).
Big economic burden
The participants argue the special financial support is needed for the OI community. According to the current treatment plans, OI patients require multidisciplinary care, which is costly. Standard health insurance policies do not resolve the financial challenges faced by OI families.
“In 2017,we spent more than 200,000 yuan in Chongqing for treatment. The hospital has no funded projects, and only 50% of the expenses can be reimbursed in Sichuan, because we are rated as poor families.“(P3).
The participants also argued that diagnosing and treating OI was costly. OI patients need hospital treatment frequently, with costs and travel expenses often surpassing family budgets, that may delay or deter treatment.
“It costs a lot to go to the hospital. The cost of two hospitalizations exceeds 50,000 yuan.”(P2).
“Only a small number of patients with OI have accepted the bisphosphonates treatment, because the cost of this treatment is relatively high. Although the medicine is not expensive, the distance to the hospital is too far, and the accommodation cost is very expensive.”(P5).
“The doctor wanted to do genetic testing for us, but we didn’t do it because of the cost. I think it is a contribution to medicine and should not be charged.“(P12).
The participant indicates the treatment costs often exceed what they can afford. Patients may discontinue or forgo treatment due to the high and unexpected expense.
“The hospital and the state should pay attention to this. We have spent more than 100,000 yuan. We have no money for further treatment.”(P12).
“She needs corrective surgery, but we have no money. We have to earn some money to see a doctor again.“(P14).
High-risk population
“Floating population” means people who leave their hometown to work in other places. The participants suggest that OI Children who follow them to live in other places often miss their disease treatments. For the “floating population”,regular follow-up treatments require overcoming more obstacles.
“We live in Guangzhou, and there is no one to take care of her in her hometown, so she followed us without receiving more treatment.”(P6).
“We are now working in out-of-town. We can only wait for the winter or summer vacation to take my children to the hospital.”(P7).
“Because we work in Fujian, we didn’t take our children to the hospital for re-examination.”(P14).
The participant talked about the high cost of OI treatment can be a significant burden for low-income families. Patients may delay or interrupt treatment due to insufficient economic income.
“There is no money for the treatment.”(P9).
“I want to treat my children during the Spring Festival, but there is some shortage of money.”(P20).
Lack of health education
It was found in interviews that many caregivers lack knowledge about OI, finding it difficult to understand the cause of the disease and the treatment plan. Caregivers’ limited knowledge about the disease may hinder their ability to objectively assess the child’s health status, further impeding effective treatment administration and family management.
“No matter whether he is good or bad, we don’t understand, we have to rely on the hospital. We have no money to treat, and this disease can’t be cured.“(P12).
“This disease has many manifestations. Our child’s manifestation was obvious, so there was no need to determine the disease genotype. The genotype check was useless for the disease treatment. Our other child didn’t have this disease.”(P13).
“There’s no history of OI in our family, so how could she have it?“(P14).
“Whether the disease could be cured and why one of their twins did not have OI.”(P15).
Participants mentioned that there are few channels that can provide knowledge about rare diseases, and only some relevant information can be found online. However, not many people are able to fully utilize the internet to obtain the necessary information.
“We found a hospital online and learned that the disease could be treated.”(P1).
“We were not given clear treatment methods or plans at the time of diagnosis.”(P9,P14).
Caregivers’ limited understanding of the disease can hinder treatment and management progress. For instance, they might rely solely on fracture occurrence to gauge treatment success, failing to accurately assess the patient’s condition and thus missing optimal intervention and treatment windows.
“Like him now, whether he is good or not, we don’t understand.”(P12).
“She has strong endurance, and sometimes she doesn’t say anything about the pain when she breaks a bone. None of our parents knew that she was broken again.”(P13).
“I don’t know how to describe her physical condition.”(P14).
Multiple treatments
Caregivers mentioned that multiple medical visits are required to confirm an OI diagnosis and to begin treatment. Other studies have also found similar healthcare-seeking behaviors. Most patients visiting hospitals repeatedly and 46% of families seeing 3–5 doctors before a final diagnosis [20]. Multiple medical visits before a diagnosis may cause caregivers to lose confidence in treating the disease. After the diagnosis, frequent trips to the hospital for treatment are an essential part of the lives of OI patient families, consuming a significant amount of their time and energy. This may lead to the development of negative emotions during the disease treatment process.
“Fracture was treated in 2016,external stent orthopedic surgery was performed in 2017,and the stent was removed in April 2018.”(P3).
“At the age of 3,he had surgery for a fracture in the Southwest Hospital. He had been diagnosed as ‘a glass man’. At the age of 6,he had been diagnosed with OI by the endocrine clinic of the Peking Union Medical College Hospital. We were not told the severity of the disease. We did not undergo the bisphosphonates treatment at that time.”(P14).
“We knew she had this disease when she fell at the age of four years old. We didn’t know she had OI until 2014,she had fractured many times, but the reason could not be found.”(P15).
Strict treatment indications
Participants indicated that they might need to forgo treatment due to the stringent eligibility criteria. The criteria for bisphosphonates treatment in OI patients are very strict, taking into account genotype and fracture history, which leads some to give up or pause treatment because of these rigid conditions.
“We had consulted the endocrinologist, the expert said if the patient wants to have the bisphosphonates treatment, it must be ensured that no fracture occurs for six months. We did not choose the bisphosphonates treatment. Sometimes we did not know whether she had a fracture, it could not be guaranteed that she would not fracture for six months. Sometimes she did not tell us she had a fracture. And we thought the bisphosphonates treatment has significant side effects. Her jaw is easy to deform. The bisphosphonates treatment needs to be hospitalized. So, she did not take the bisphosphonates treatment.”(P13).
Disappointing therapeutic outcomes
Participants mentioned that due to the treatment not achieving their expecting, they will interrupt the follow-up treatment for their children. Some of the caregivers’ treatment expectations are beyond the current level of treatment capabilities. Caregivers’ unmet therapeutic expectations stem from incorrect or incomplete understanding of the disease.
“She has been anesthetized three times. Although she doesn’t want to have surgery again, but she still needs surgery in the future. Because of many times of anesthesia treatment and radiographic examination, it still had a great impact on children. Because of the slow recovery of the surgery, I don’t want to operate any more.”(P2).
“I am not unwilling to treat this disease, and OI cannot be cured. The doctor said he would not live beyond 20 years old.”(P12).
Caregivers mistakenly attribute some poor health conditions or clinical manifestations of OI to side effects of the treatment, such as memory decline, low recovery, and so on. After weighing the “side effects” against the therapeutic effects, the caregivers may interrupt or abandon the follow-up treatment for their children.
“She has been anesthetized three times. Although she doesn’t want to have surgery again, she still needs surgery in the future. Because of the anesthesia and radiographic examination, it still had a great impact on children.”(P2).
“We maybe go to the hospital for the bisphosphonates treatment in summer or winter vacation. Is this medicine expensive? Whether the bisphosphonates could be used for a long time?”(P7).
“Because of the slow recovery of the surgery, I don’t want my child to undergo any more operations.”(P10).
Effective or ineffective treatment results
Participants mentioned that the outcome of a particular treatment will determine their attitude towards subsequent treatments. Positive outcomes encouraged treatment adherence, while unsatisfactory results may lead to discontinuation.
“Due to the slow recovery post-surgery, I am reluctant to undergo any more operations.”(P10).
“My son is currently undergoing regular bisphosphonates treatment. His condition has significantly improved and he has not experienced any fractures. We visit the hospital with other children each time. However, due to his school schedule, we have to adjust the drug administration to once every six months instead of once every four months.”(P19).
Discussion
While OI currently remains incurable, the implementation of standardized therapeutic protocols can lead to significantly improved post-treatment outcomes for patients. However, it is disconcerting that only a minority of OI patients in China receive the proper care. The OI patients encountered many barriers in the process of diagnose and treat. The obstacles include the absence of supportive financial policies, challenges in obtaining information about medical facilities, the exorbitant costs of treatment, the financial strain of covering associated expenses, and so on.
The current medical insurance policies for rare diseases are not applicable to OI patients. Rare disease medical coverage is limited in China, with significant regional disparities [21]. At present, China’s rare disease medical insurance policies focus on reducing the prices of orphan drugs. For OI patients, the costs associated with surgical internal fixation materials, disease diagnosis, and postoperative rehabilitation functional training are higher than drugs. OI Patients have a lower proportion of medication costs in their out-of-pocket expenses, with a global average of 21.20%,and Asian patients account for 16.38%;The highest proportion of out-of-pocket expenses is for Personal care /support assistance [22]. The treatment costs exceed the financial capacity of the patients’ families. Insufficient financial resources to cover treatment expenses pose a prevalent and significant challenge for families affected by OI, especially in those with multiple members requiring care. Due to the recessive or dominant mode of inheritance of OI, multiple family members may be affected within a single household. OI may lead to a certain degree of labor capacity loss and subsequently imposing significant economic burdens on this group [5]. Furthermore, when a family is burdened with multiple OI patients, it becomes imperative to offer additional support. Clinical nursing professionals, as the first point of contact with patients, can quickly identify issues in treatment and management, assess whether policies effectively address patient difficulties, and provide data support for the reform of rare disease policies.
Scarcity of specialized centers for rare diseases, such as OI, can lead to diagnostic delays and heightened treatment costs for patients. While OI is diagnosable at primary care levels, optimal management often necessitates referral to regional tertiary hospitals. To address this, the establishment of regional medical centers with expertise in rare diseases is imperative. Cross-regional specialty alliances can balance medical resources, enhance disease prevention and treatment, and improve service capacity for special diseases [23]. Regional medical centers should be well-distributed to reduce the medical costs for patients [24]. Due to China’s vast geography, the occurrence of rare diseases is scattered across various regions. Each region needs to establish Rare Disease Medical Consortium, with medical institutions at various levels cooperating and dividing the work. Medical staff at primary healthcare institutions must be capable of identifying rare diseases and referring OI patients to regional medical facilities with the capability to diagnose and treat. Meanwhile, regional diagnostic and treatment centers should devise comprehensive disease management strategies, undertake the treatment and management of rare diseases, and undertake the training of primary care institutions to enhance their proficiency in recognizing rare diseases.
The OI community generally lacks knowledge about the disease, even for patients who are not visiting for the first time. This is related to the complexity of rare diseases, their low incidence, the lower education levels and medical knowledge comprehension of caregivers, and the limited focus on rare diseases in health science popularization by hospitals. Targeted health education can be conducted based on their demographic characteristics. Assessments of caregivers’ grasp of disease knowledge should be made before and after each health education session to facilitate healthcare providers in adjusting the content and methods of health education as needed. There is a need to develop specific health education guidelines for conducting health education among employees with lower levels of education [25]. Due to OI being a lifelong condition, health education content can be tailored for patients at different stages of the disease based on the Chronic Illness Trajectory Framework (CITF) proposed by Corbin and Strauss, which follows the development trajectory of chronic diseases [26]. Many participants have obtained relevant knowledge from the internet, while they remain concerned about the authenticity of the information provided online and its impact on health outcomes [27]. Health education for the OI community should be jointly carried out by orthopedic doctors, endocrinologists, rehabilitation therapists, and nurse. Patients’ compliance, prognosis, outcomes, and quality of life are closely related to their health literacy [28, 29]. Enhancing this literacy is key to disease prevention, treatment, and recovery [30]. From the patient’s perspective, themed day events and group health education is also very necessary [31]. Patients with good treatment outcomes can play a leading role, increasing patients’ confidence in treatment and disease management.
It is suggested to implement disease family management for children with OI, change the disease management mode, and shift from patients’ active medical treatment to hospital-led active treatment. A multidisciplinary disease management model led by a specialist should be established to take care of OI patients [32]. The family is an essential environment for children to grow up in, and they need to monitor the development and changes of OI at all times. Hospitals and families require two-way cooperation [33]. Medical staff should pay attention to assessing patients’ family management modes and needs, provide targeted nursing interventions, improve family management modes, and enhance treatment outcomes [34]. Medical personnel should monitor the effectiveness of family disease management, pay attention to changes in the condition, remind patients of key treatment dates, and enhance therapeutic outcomes. In the management team for rare diseases, a Specialist Nurse should serves as a link between the patient and the medical team, conveying and providing feedback on relevant information. For children with OI, it is also necessary to increase the self-management abilities of older children in daily management, gradually transitioning from family-centered management in childhood to self-management in adulthood.
Reducing unnecessary hospital visits can improve patients’ willingness to seek medical care. The reasons for multiple medical visits by OI children include: inability to be rapidly diagnosed with OI, failure to locate hospitals offering OI treatment, regular hospitalization for treatment following diagnosis, and accidental fractures, among others. Interviews revealed that children with OI often have multiple medical visits in different places from the onset of fractures to diagnosed with OI and started standard treatment. When OI children do not receive standard OI treatment and their fractures are treated as ordinary fractures, it may lead to a series of adverse reactions. This can result in a lack of confidence in treating the disease, a belief that the condition cannot improve, and even abandonment of therapy. After entering standardized OI treatment, children need to go to the hospital every 3,4,or 6 months to receive bisphosphonate therapy, or regularly to the orthopedic department for corrective treatment. To minimize the academic impact of frequent medical visits on children with OI, they choose to go to the hospital for treatment during school holidays or weekends. To mitigate the academic consequences of recurrent medical consultations for pediatric patients with OI, healthcare providers should devise personalized treatment plans that align with the individual needs of OI children, thereby balancing their medical treatments with academic commitments. Although bisphosphonate drugs are widely used in the treatment of OI, there is significant controversy over whether they cause delays in fracture healing [7], it is necessary to confirm that the patient has no fractures before starting drug treatment. Some minor fractures in OI patients are only detectable through laboratory tests, leading to unnecessary trips to the hospital for the patients. Due to the difficulty in preventing fractures, caregivers may abandon drug treatment, which is more common in older children. Therefore, it is recommended that OI patients confirm the absence of fractures at local hospitals before proceeding to the treatment center to begin therapy.
Conclusions
We use phenomenological methods to analyze the challenges and requirements of children’s families in the process of care-seeking behavior based on the Anderson’s model. In order to standardize patients’ medical behavior, we need to start from many aspects. First of all, the state must establish a dedicated fund for OI treatment or revise the medical insurance policies, and strategize the development of regional medical centers to ensure timely access to specialized OI care for patients across all regions. Tertiary medical institutions can support primary and grassroots medical institutions by providing professional guidance, implementing two-way referrals, and improving the utilization rate of medical resources. Secondly, primary medical institutions need to improve their ability to diagnose rare diseases and realize the recommendation for medical treatment. Specialized medical institutions need to improve their ability to treat and manage rare diseases to ensure that patients receive effective and continuous treatment. Finally, for OI patients with high-risk bad medical behavior tendency, provide specialist team management. For instance, families facing financial and human resource constraints in completing the treatment, those lacking knowledge about the disease, families who have frequently sought medical intervention, and those whose therapeutic outcomes have fallen short of expectations, among others, require specialized attention and support.
Acknowledgements
We express our heartfelt gratitude to our advisor for the directional guidance provided throughout the research design, implementation, and thesis writing process. We are grateful to Professor Gao for the guidance provided in the study of qualitative research methods. We are deeply appreciative of the active cooperation and participation of the research subjects in the survey. We also extend our thanks to our fellow students for their valuable feedback and suggestions during the presentation of our research findings.
Declarations
Ethics approval and consent to participate
This study was approved by the Institutional Review Board of Children’s Hospital of Chongqing Medical University, File No.2021(59),involved participants who verbally consented, with interviews recorded for documentation. The investigation conforms to the Declaration of Helsinki. Informed consent was obtained from all individual participants included in the study.
Consent for publication
Participants provided consent for their data to be published.
Competing interests
The authors declare no competing interests.
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